- Head appears large in relation to the trunk.
- Small lower jaw.
- Narrow chest.
- Protuberant abdomen.
- Mutation analysis of the DDST gene identifies the following: point mutations, deletions leading to premature stop codons, substitutions or deletions of amino acids within transmembrane domains, substitutions of amino acids in intracellular or extracellular domains, and presumed mutations lying outside the coding region but causing low mRNA levels.Several mutations of the DDST gene have been reported in patients with type IB (the most severe form), patients with atelosteogenesis type II (an intermediate form), and patients with diastrophic dysplasia (the mildest form).Mutation analysis can be used to ascertain carriers, particularly in consanguineous families. However, biochemical analysis of fibroblast cultures has not been able to distinguish heterozygotes from normal homozygotes.
- Mutation analysis of the COL2A1 gene detects a single base change that has been observed in a patient with achondrogenesis type II in the type II procollagen gene (ie, substitution of serine for glycine in the alpha 1 [II] chain).
A new study from the University of Iowa in Iowa City, US, finds that light and frequent physical exercise can boost mental health in short- and long-term perspective. During the study, a bunch of volunteers agreed to undergo functional MRI scanning which measured...
Recent research from the Washington University School of Medicine in St. Louise, US, suggests that pregnant women who eat a diet high in fat and sugar during pregnancy increase their child’s risk of having heart issues in the future. For their study, the researchers...
In childhood, many of us dreamed of learning to jump high. Now, after years, it became easier - Kangoo Jumps has appeared. This is one of the relatively new, but quickly gaining popularity types of fitness training. There are several advantages of jumpers. ...read more
It is time for us to find the solution how to deal with extra weight which is coming with Christmas and New Year’s celebrations because 2018 is almost over and 2019 is getting closer. The main aim is obviously staying in shape and today will find an effective way to...read more
We know that moderate exercise strengthens our health and makes us more beautiful. But few know about the importance of doing sports as psychotherapy. And, nevertheless, physical loads can save from depressions, reduce anxiety, relieve from professional burnout,...read more